Varaico: Literature-Extracted Genetic Variants

Gene:CHDH
Variant:p.P394T
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CHDH

NM_018397.5:p.P394T

Associated Papers

Sequence variations in GATA4 and CITED2 gene among patients with cardiac septation defects from Xinjiang, China.

Imam R et al.

Cardiology in the Young, 2024

A Novel Missense Mutation of GATA4 in a Chinese Family with Congenital Heart Disease.

Zhang X et al.

Plos One, 2016

27391137 (PubMed )
Supplement: pone.0158904.s003.pdf

Screening and biochemical analysis of GATA4 sequence variations identified in patients with congenital heart disease.

Schluterman MK et al.

American Journal of Medical Genetics. Part A, 2007

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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."